Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 492 | 56 | 432 |
| Samples | 146 | 25 | 119 |
| Peptides | 143 | 24 | 122 |
Function
HERPUD1 · Homocysteine inducible ER protein with ubiquitin like domain 1
The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq, Jan 2013].
Isoforms & Proteins
4 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
Gene Properties
Recurrent Mutations
All 115 amino-acid changes on canonical ENST00000439977 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in HERPUD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HERPUD1 – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Endometrial Carcinoma | 1/42 2% | 6/612 1% |
| Melanoma | 0/210 0% | 21/1899 1% |
| Other Solid Cancers | 0/94 0% | 13/1515 1% |
| Esophageal Carcinoma | 2/23 9% | 3/769 0% |
| Colorectal Carcinoma | 8/143 6% | 13/3239 0% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Ovarian Carcinoma | 3/109 3% | 2/998 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 4/1390 0% |
| Hepatocellular Carcinoma | 0/46 0% | 8/2210 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Head and Neck Carcinoma | 0/85 0% | 4/1574 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 4/2534 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Gastric Carcinoma | 0/74 0% | 4/1809 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
| Breast Carcinoma | 0/144 0% | 2/3264 0% |
Mutation Distribution
Where HERPUD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in HERPUD1 were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 492 mutations in HERPUD1
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|